What is another word for Holocarboxylase Synthetase Deficiencies?
Pronunciation: [hˈɒləkˌɑːbəksˌɪle͡ɪs sˈɪnθɪtˌe͡ɪs dɪfˈɪʃənsɪz] (IPA) 
Holocarboxylase synthetase deficiencies, also known as holocarboxylase synthetase (HCS) deficiencies, are a group of inherited disorders that affect the body's ability to metabolize certain nutrients, known as biotin and its derivatives. These deficiencies result from mutations in the gene responsible for producing the holocarboxylase synthetase enzyme, which is necessary for activating biotin in the body. Consequently, affected individuals experience a range of symptoms, including poor growth, neurological abnormalities, skin rashes, and impaired immune function. Synonyms for holocarboxylase synthetase deficiencies include HCS deficiency, biotinidase deficiency (in reference to one specific subtype), and multiple carboxylase deficiency (MCDD). Early diagnosis and lifelong biotin supplementation are crucial for managing these conditions and preventing potential complications.
